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nsv6314555

  • Variant Calls:7
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:1

Links to Other Resources

Source: NCBI

Genome View

Select assembly:
Overlapping variant regions from other studies: 90 SVs from 21 studies. See in: genome view    
Remapped(Score: Perfect):53,570,220-53,570,220Question Mark
Overlapping variant regions from other studies: 90 SVs from 21 studies. See in: genome view    
Remapped(Score: Perfect):53,570,220-53,570,220Question Mark
Overlapping variant regions from other studies: 89 SVs from 18 studies. See in: genome view    
Remapped(Score: Perfect):64,275,045-64,275,045Question Mark
Overlapping variant regions from other studies: 89 SVs from 18 studies. See in: genome view    
Remapped(Score: Perfect):64,275,166-64,275,166Question Mark
Overlapping variant regions from other studies: 92 SVs from 20 studies. See in: genome view    
Remapped(Score: Perfect):67,481,449-67,481,449Question Mark
Overlapping variant regions from other studies: 92 SVs from 20 studies. See in: genome view    
Remapped(Score: Perfect):67,481,600-67,481,600Question Mark
Overlapping variant regions from other studies: 95 SVs from 23 studies. See in: genome view    
Remapped(Score: Perfect):69,269,210-69,269,210Question Mark
Overlapping variant regions from other studies: 95 SVs from 23 studies. See in: genome view    
Remapped(Score: Perfect):69,269,215-69,269,215Question Mark
Overlapping variant regions from other studies: 72 SVs from 17 studies. See in: genome view    
Remapped(Score: Perfect):2,017,733-2,017,733Question Mark
Overlapping variant regions from other studies: 72 SVs from 17 studies. See in: genome view    
Remapped(Score: Perfect):2,017,734-2,017,734Question Mark
Overlapping variant regions from other studies: 81 SVs from 19 studies. See in: genome view    
Remapped(Score: Perfect):2,144,988-2,144,988Question Mark
Overlapping variant regions from other studies: 81 SVs from 19 studies. See in: genome view    
Remapped(Score: Perfect):2,145,175-2,145,175Question Mark
Overlapping variant regions from other studies: 72 SVs from 26 studies. See in: genome view    
Remapped(Score: Perfect):9,550,743-9,550,743Question Mark
Overlapping variant regions from other studies: 72 SVs from 26 studies. See in: genome view    
Remapped(Score: Perfect):9,550,785-9,550,785Question Mark
Overlapping variant regions from other studies: 90 SVs from 21 studies. See in: genome view    
Submitted genomic54,482,780-54,482,780Question Mark
Overlapping variant regions from other studies: 90 SVs from 21 studies. See in: genome view    
Submitted genomic54,482,780-54,482,780Question Mark
Overlapping variant regions from other studies: 89 SVs from 18 studies. See in: genome view    
Submitted genomic65,187,602-65,187,602Question Mark
Overlapping variant regions from other studies: 89 SVs from 18 studies. See in: genome view    
Submitted genomic65,187,723-65,187,723Question Mark
Overlapping variant regions from other studies: 92 SVs from 20 studies. See in: genome view    
Submitted genomic68,393,684-68,393,684Question Mark
Overlapping variant regions from other studies: 92 SVs from 20 studies. See in: genome view    
Submitted genomic68,393,835-68,393,835Question Mark
Overlapping variant regions from other studies: 95 SVs from 23 studies. See in: genome view    
Submitted genomic70,181,445-70,181,445Question Mark
Overlapping variant regions from other studies: 95 SVs from 23 studies. See in: genome view    
Submitted genomic70,181,450-70,181,450Question Mark
Overlapping variant regions from other studies: 72 SVs from 17 studies. See in: genome view    
Submitted genomic2,059,927-2,059,927Question Mark
Overlapping variant regions from other studies: 72 SVs from 17 studies. See in: genome view    
Submitted genomic2,059,928-2,059,928Question Mark
Overlapping variant regions from other studies: 81 SVs from 19 studies. See in: genome view    
Submitted genomic2,187,182-2,187,182Question Mark
Overlapping variant regions from other studies: 81 SVs from 19 studies. See in: genome view    
Submitted genomic2,187,369-2,187,369Question Mark
Overlapping variant regions from other studies: 72 SVs from 26 studies. See in: genome view    
Submitted genomic9,592,706-9,592,706Question Mark
Overlapping variant regions from other studies: 72 SVs from 26 studies. See in: genome view    
Submitted genomic9,592,748-9,592,748Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrStartStopstrand
nsv6314555RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000008.11Chr853,570,22053,570,220+
nsv6314555RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000008.11Chr853,570,22053,570,220+
nsv6314555RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000008.11Chr864,275,04564,275,045+
nsv6314555RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000008.11Chr864,275,16664,275,166+
nsv6314555RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000008.11Chr867,481,44967,481,449+
nsv6314555RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000008.11Chr867,481,60067,481,600+
nsv6314555RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000008.11Chr869,269,21069,269,210+
nsv6314555RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000008.11Chr869,269,21569,269,215-
nsv6314555RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000010.11Chr102,017,7332,017,733+
nsv6314555RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000010.11Chr102,017,7342,017,734-
nsv6314555RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000010.11Chr102,144,9882,144,988+
nsv6314555RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000010.11Chr102,145,1752,145,175+
nsv6314555RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000010.11Chr109,550,7439,550,743+
nsv6314555RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000010.11Chr109,550,7859,550,785+
nsv6314555Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000008.10Chr854,482,78054,482,780+
nsv6314555Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000008.10Chr854,482,78054,482,780+
nsv6314555Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000008.10Chr865,187,60265,187,602+
nsv6314555Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000008.10Chr865,187,72365,187,723+
nsv6314555Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000008.10Chr868,393,68468,393,684+
nsv6314555Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000008.10Chr868,393,83568,393,835+
nsv6314555Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000008.10Chr870,181,44570,181,445+
nsv6314555Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000008.10Chr870,181,45070,181,450-
nsv6314555Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000010.10Chr102,059,9272,059,927+
nsv6314555Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000010.10Chr102,059,9282,059,928-
nsv6314555Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000010.10Chr102,187,1822,187,182+
nsv6314555Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000010.10Chr102,187,3692,187,369+
nsv6314555Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000010.10Chr109,592,7069,592,706+
nsv6314555Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000010.10Chr109,592,7489,592,748+

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar ID
nssv17968617intrachromosomal translocationMultipleMultiple2-3 toe syndactyly; 2-3 toe syndactyly; ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD; Absent speech; Absent speech; Attention deficit hyperactivity disorder; Attention deficit hyperactivity disorder; Autistic behavior; Autistic behavior; Bilateral conductive hearing impairment; Bilateral conductive hearing impairment; Global developmental delay; Global developmental delay; Growth delay; Growth delay; HYPERTELORISM; Hypertelorism; Hypertelorism; Low-set ears; Low-set ears; Micrognathia; Micrognathia; Short phalanx of finger; Short phalanx of finger; Short toe; Short toe; Single transverse palmar crease; Single transverse palmar crease; Somatic sensory dysfunction; Somatic sensory dysfunctionPathogenicClinVarRCV000258522.1, VCV000267850.1
nssv17968618intrachromosomal translocationMultipleMultiple2-3 toe syndactyly; 2-3 toe syndactyly; ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD; Absent speech; Absent speech; Attention deficit hyperactivity disorder; Attention deficit hyperactivity disorder; Autistic behavior; Autistic behavior; Bilateral conductive hearing impairment; Bilateral conductive hearing impairment; Global developmental delay; Global developmental delay; Growth delay; Growth delay; HYPERTELORISM; Hypertelorism; Hypertelorism; Low-set ears; Low-set ears; Micrognathia; Micrognathia; Short phalanx of finger; Short phalanx of finger; Short toe; Short toe; Single transverse palmar crease; Single transverse palmar crease; Somatic sensory dysfunction; Somatic sensory dysfunctionPathogenicClinVarRCV000258522.1, VCV000267850.1
nssv17968622copy number lossMultipleMultiple2-3 toe syndactyly; 2-3 toe syndactyly; ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD; Absent speech; Absent speech; Attention deficit hyperactivity disorder; Attention deficit hyperactivity disorder; Autistic behavior; Autistic behavior; Bilateral conductive hearing impairment; Bilateral conductive hearing impairment; Global developmental delay; Global developmental delay; Growth delay; Growth delay; HYPERTELORISM; Hypertelorism; Hypertelorism; Low-set ears; Low-set ears; Micrognathia; Micrognathia; Short phalanx of finger; Short phalanx of finger; Short toe; Short toe; Single transverse palmar crease; Single transverse palmar crease; Somatic sensory dysfunction; Somatic sensory dysfunctionPathogenicClinVarRCV000258522.1, VCV000267850.1
nssv17968619interchromosomal translocationMultipleMultiple2-3 toe syndactyly; 2-3 toe syndactyly; ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD; Absent speech; Absent speech; Attention deficit hyperactivity disorder; Attention deficit hyperactivity disorder; Autistic behavior; Autistic behavior; Bilateral conductive hearing impairment; Bilateral conductive hearing impairment; Global developmental delay; Global developmental delay; Growth delay; Growth delay; HYPERTELORISM; Hypertelorism; Hypertelorism; Low-set ears; Low-set ears; Micrognathia; Micrognathia; Short phalanx of finger; Short phalanx of finger; Short toe; Short toe; Single transverse palmar crease; Single transverse palmar crease; Somatic sensory dysfunction; Somatic sensory dysfunctionPathogenicClinVarRCV000258522.1, VCV000267850.1
nssv17968621interchromosomal translocationMultipleMultiple2-3 toe syndactyly; 2-3 toe syndactyly; ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD; Absent speech; Absent speech; Attention deficit hyperactivity disorder; Attention deficit hyperactivity disorder; Autistic behavior; Autistic behavior; Bilateral conductive hearing impairment; Bilateral conductive hearing impairment; Global developmental delay; Global developmental delay; Growth delay; Growth delay; HYPERTELORISM; Hypertelorism; Hypertelorism; Low-set ears; Low-set ears; Micrognathia; Micrognathia; Short phalanx of finger; Short phalanx of finger; Short toe; Short toe; Single transverse palmar crease; Single transverse palmar crease; Somatic sensory dysfunction; Somatic sensory dysfunctionPathogenicClinVarRCV000258522.1, VCV000267850.1
nssv17968620intrachromosomal translocationMultipleMultiple2-3 toe syndactyly; 2-3 toe syndactyly; ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD; Absent speech; Absent speech; Attention deficit hyperactivity disorder; Attention deficit hyperactivity disorder; Autistic behavior; Autistic behavior; Bilateral conductive hearing impairment; Bilateral conductive hearing impairment; Global developmental delay; Global developmental delay; Growth delay; Growth delay; HYPERTELORISM; Hypertelorism; Hypertelorism; Low-set ears; Low-set ears; Micrognathia; Micrognathia; Short phalanx of finger; Short phalanx of finger; Short toe; Short toe; Single transverse palmar crease; Single transverse palmar crease; Somatic sensory dysfunction; Somatic sensory dysfunctionPathogenicClinVarRCV000258522.1, VCV000267850.1
nssv17968623copy number lossMultipleMultiple2-3 toe syndactyly; 2-3 toe syndactyly; ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD; Absent speech; Absent speech; Attention deficit hyperactivity disorder; Attention deficit hyperactivity disorder; Autistic behavior; Autistic behavior; Bilateral conductive hearing impairment; Bilateral conductive hearing impairment; Global developmental delay; Global developmental delay; Growth delay; Growth delay; HYPERTELORISM; Hypertelorism; Hypertelorism; Low-set ears; Low-set ears; Micrognathia; Micrognathia; Short phalanx of finger; Short phalanx of finger; Short toe; Short toe; Single transverse palmar crease; Single transverse palmar crease; Somatic sensory dysfunction; Somatic sensory dysfunctionPathogenicClinVarRCV000258522.1, VCV000267850.1

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrStartStopstrand
nssv17968617RemappedPerfectGRCh38.p12First PassNC_000008.11Chr853,570,22053,570,220+
nssv17968618RemappedPerfectGRCh38.p12First PassNC_000008.11Chr853,570,22053,570,220+
nssv17968622RemappedPerfectNC_000008.11:g.674
81600delNC_000008.
11:g.64275045del		GRCh38.p12First PassNC_000008.11Chr864,275,04564,275,045
nssv17968619RemappedPerfectGRCh38.p12First PassNC_000008.11Chr864,275,16664,275,166+
nssv17968617RemappedPerfectGRCh38.p12First PassNC_000008.11Chr867,481,44967,481,449+
nssv17968622RemappedPerfectNC_000008.11:g.674
81600delNC_000008.
11:g.64275045del		GRCh38.p12First PassNC_000008.11Chr867,481,60067,481,600
nssv17968618RemappedPerfectGRCh38.p12First PassNC_000008.11Chr869,269,21069,269,210+
nssv17968621RemappedPerfectGRCh38.p12First PassNC_000008.11Chr869,269,21569,269,215-
nssv17968619RemappedPerfectGRCh38.p12First PassNC_000010.11Chr102,017,7332,017,733+
nssv17968620RemappedPerfectGRCh38.p12First PassNC_000010.11Chr102,017,7342,017,734-
nssv17968623RemappedPerfectNC_000010.11:g.955
0785delNC_000010.1
1:g.2144988del		GRCh38.p12First PassNC_000010.11Chr102,144,9882,144,988
nssv17968620RemappedPerfectGRCh38.p12First PassNC_000010.11Chr102,145,1752,145,175+
nssv17968621RemappedPerfectGRCh38.p12First PassNC_000010.11Chr109,550,7439,550,743+
nssv17968623RemappedPerfectNC_000010.11:g.955
0785delNC_000010.1
1:g.2144988del		GRCh38.p12First PassNC_000010.11Chr109,550,7859,550,785
nssv17968617Submitted genomicGRCh37 (hg19)NC_000008.10Chr854,482,78054,482,780+
nssv17968618Submitted genomicGRCh37 (hg19)NC_000008.10Chr854,482,78054,482,780+
nssv17968622Submitted genomicNC_000008.10:g.651
87602delNC_000008.
10:g.68393835del		GRCh37 (hg19)NC_000008.10Chr865,187,60265,187,602
nssv17968619Submitted genomicGRCh37 (hg19)NC_000008.10Chr865,187,72365,187,723+
nssv17968617Submitted genomicGRCh37 (hg19)NC_000008.10Chr868,393,68468,393,684+
nssv17968622Submitted genomicNC_000008.10:g.651
87602delNC_000008.
10:g.68393835del		GRCh37 (hg19)NC_000008.10Chr868,393,83568,393,835
nssv17968618Submitted genomicGRCh37 (hg19)NC_000008.10Chr870,181,44570,181,445+
nssv17968621Submitted genomicGRCh37 (hg19)NC_000008.10Chr870,181,45070,181,450-
nssv17968619Submitted genomicGRCh37 (hg19)NC_000010.10Chr102,059,9272,059,927+
nssv17968620Submitted genomicGRCh37 (hg19)NC_000010.10Chr102,059,9282,059,928-
nssv17968623Submitted genomicNC_000010.10:g.218
7182delNC_000010.1
0:g.9592748del		GRCh37 (hg19)NC_000010.10Chr102,187,1822,187,182
nssv17968620Submitted genomicGRCh37 (hg19)NC_000010.10Chr102,187,3692,187,369+
nssv17968621Submitted genomicGRCh37 (hg19)NC_000010.10Chr109,592,7069,592,706+
nssv17968623Submitted genomicNC_000010.10:g.218
7182delNC_000010.1
0:g.9592748del		GRCh37 (hg19)NC_000010.10Chr109,592,7489,592,748

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar ID
nssv17968617intrachromosomal translocationde novo2-3 toe syndactyly; 2-3 toe syndactyly; ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD; Absent speech; Absent speech; Attention deficit hyperactivity disorder; Attention deficit hyperactivity disorder; Autistic behavior; Autistic behavior; Bilateral conductive hearing impairment; Bilateral conductive hearing impairment; Global developmental delay; Global developmental delay; Growth delay; Growth delay; HYPERTELORISM; Hypertelorism; Hypertelorism; Low-set ears; Low-set ears; Micrognathia; Micrognathia; Short phalanx of finger; Short phalanx of finger; Short toe; Short toe; Single transverse palmar crease; Single transverse palmar crease; Somatic sensory dysfunction; Somatic sensory dysfunctionPathogenicClinVarRCV000258522.1, VCV000267850.1
nssv17968618intrachromosomal translocationde novo2-3 toe syndactyly; 2-3 toe syndactyly; ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD; Absent speech; Absent speech; Attention deficit hyperactivity disorder; Attention deficit hyperactivity disorder; Autistic behavior; Autistic behavior; Bilateral conductive hearing impairment; Bilateral conductive hearing impairment; Global developmental delay; Global developmental delay; Growth delay; Growth delay; HYPERTELORISM; Hypertelorism; Hypertelorism; Low-set ears; Low-set ears; Micrognathia; Micrognathia; Short phalanx of finger; Short phalanx of finger; Short toe; Short toe; Single transverse palmar crease; Single transverse palmar crease; Somatic sensory dysfunction; Somatic sensory dysfunctionPathogenicClinVarRCV000258522.1, VCV000267850.1
nssv17968622GRCh37: NC_000008.10:g.65187602delNC_000008.10:g.68393835delcopy number lossde novo2-3 toe syndactyly; 2-3 toe syndactyly; ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD; Absent speech; Absent speech; Attention deficit hyperactivity disorder; Attention deficit hyperactivity disorder; Autistic behavior; Autistic behavior; Bilateral conductive hearing impairment; Bilateral conductive hearing impairment; Global developmental delay; Global developmental delay; Growth delay; Growth delay; HYPERTELORISM; Hypertelorism; Hypertelorism; Low-set ears; Low-set ears; Micrognathia; Micrognathia; Short phalanx of finger; Short phalanx of finger; Short toe; Short toe; Single transverse palmar crease; Single transverse palmar crease; Somatic sensory dysfunction; Somatic sensory dysfunctionPathogenicClinVarRCV000258522.1, VCV000267850.1
nssv17968619interchromosomal translocationde novo2-3 toe syndactyly; 2-3 toe syndactyly; ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD; Absent speech; Absent speech; Attention deficit hyperactivity disorder; Attention deficit hyperactivity disorder; Autistic behavior; Autistic behavior; Bilateral conductive hearing impairment; Bilateral conductive hearing impairment; Global developmental delay; Global developmental delay; Growth delay; Growth delay; HYPERTELORISM; Hypertelorism; Hypertelorism; Low-set ears; Low-set ears; Micrognathia; Micrognathia; Short phalanx of finger; Short phalanx of finger; Short toe; Short toe; Single transverse palmar crease; Single transverse palmar crease; Somatic sensory dysfunction; Somatic sensory dysfunctionPathogenicClinVarRCV000258522.1, VCV000267850.1
nssv17968621interchromosomal translocationde novo2-3 toe syndactyly; 2-3 toe syndactyly; ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD; Absent speech; Absent speech; Attention deficit hyperactivity disorder; Attention deficit hyperactivity disorder; Autistic behavior; Autistic behavior; Bilateral conductive hearing impairment; Bilateral conductive hearing impairment; Global developmental delay; Global developmental delay; Growth delay; Growth delay; HYPERTELORISM; Hypertelorism; Hypertelorism; Low-set ears; Low-set ears; Micrognathia; Micrognathia; Short phalanx of finger; Short phalanx of finger; Short toe; Short toe; Single transverse palmar crease; Single transverse palmar crease; Somatic sensory dysfunction; Somatic sensory dysfunctionPathogenicClinVarRCV000258522.1, VCV000267850.1
nssv17968620intrachromosomal translocationde novo2-3 toe syndactyly; 2-3 toe syndactyly; ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD; Absent speech; Absent speech; Attention deficit hyperactivity disorder; Attention deficit hyperactivity disorder; Autistic behavior; Autistic behavior; Bilateral conductive hearing impairment; Bilateral conductive hearing impairment; Global developmental delay; Global developmental delay; Growth delay; Growth delay; HYPERTELORISM; Hypertelorism; Hypertelorism; Low-set ears; Low-set ears; Micrognathia; Micrognathia; Short phalanx of finger; Short phalanx of finger; Short toe; Short toe; Single transverse palmar crease; Single transverse palmar crease; Somatic sensory dysfunction; Somatic sensory dysfunctionPathogenicClinVarRCV000258522.1, VCV000267850.1
nssv17968623GRCh37: NC_000010.10:g.2187182delNC_000010.10:g.9592748delcopy number lossde novo2-3 toe syndactyly; 2-3 toe syndactyly; ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD; Absent speech; Absent speech; Attention deficit hyperactivity disorder; Attention deficit hyperactivity disorder; Autistic behavior; Autistic behavior; Bilateral conductive hearing impairment; Bilateral conductive hearing impairment; Global developmental delay; Global developmental delay; Growth delay; Growth delay; HYPERTELORISM; Hypertelorism; Hypertelorism; Low-set ears; Low-set ears; Micrognathia; Micrognathia; Short phalanx of finger; Short phalanx of finger; Short toe; Short toe; Single transverse palmar crease; Single transverse palmar crease; Somatic sensory dysfunction; Somatic sensory dysfunctionPathogenicClinVarRCV000258522.1, VCV000267850.1

No genotype data were submitted for this variant

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