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NC_000004.11:g.(?_186064527)_(187630981_?)del AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 19, 2022
Review status:
Somatic classification
of clinical impact:
None
Review status:
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
no assertion criteria provided
Record status:
current
Accession:
RCV003120734.4

Allele description [Variation Report for NC_000004.11:g.(?_186064527)_(187630981_?)del]

NC_000004.11:g.(?_186064527)_(187630981_?)del

Genes:
...more
Variant type:
Deletion
Cytogenetic location:
4q35.1-35.2
Genomic location:
Chr4: 186064527 - 187630981 (on Assembly GRCh37)
Preferred name:
NC_000004.11:g.(?_186064527)_(187630981_?)del
HGVS:
NC_000004.11:g.(?_186064527)_(187630981_?)del

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV003795415Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Pathogenic
(Jul 19, 2022)
germlineclinical testing

PubMed (4)
[]

Last Updated: Sep 29, 2024

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