"PreventionGenetics, part of Exact Sciences"[submitter] AND "LOC101928 - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3061004	NM_030962.4(SBF2):c.3291C>T (p.Thr1097=)	LOC101928008, SBF2	Single nucleotide variant (synonymous variant)	SBF2-related disorder	GLikely benign
Select item 246062	NM_030962.4(SBF2):c.3290C>A (p.Thr1097Asn)	LOC101928008, SBF2 (T1097N +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +5 more	GConflicting classifications of pathogenicity
Select item 448239	NM_030962.4(SBF2):c.3056A>T (p.Gln1019Leu)	LOC101928008, SBF2 (Q1019L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 700985	NM_030962.4(SBF2):c.2787A>T (p.Gly929=)	LOC101928008, SBF2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4 +1 more	GConflicting classifications of pathogenicity
Select item 194989	NM_030962.4(SBF2):c.2323G>A (p.Gly775Ser)	LOC101928008, SBF2 (G775S +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4B2 +6 more	GBenign/Likely benign
Select item 1025647	NM_030962.4(SBF2):c.2155G>A (p.Glu719Lys)	LOC101928008, SBF2 (E719K +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +2 more	GUncertain significance
Select item 1108101	NM_030962.4(SBF2):c.2112T>A (p.Pro704=)	LOC101928008, SBF2	Single nucleotide variant (synonymous variant)	SBF2-related disorder +1 more	GLikely benign

ClinVar