Submissions for variant NM_139343.3(BIN1):c.888C>T (p.Ser296=)

gnomAD frequency: 0.00403  dbSNP: rs114833236

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000145349	SCV000315943	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000284692	SCV000416302	uncertain significance	Myopathy, centronuclear, 2	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Invitae	RCV000284692	SCV000634521	benign	Myopathy, centronuclear, 2	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000145349	SCV000731007	benign	not specified	2017-01-19	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
CeGaT Center for Human Genetics Tuebingen	RCV003221820	SCV003916131	likely benign	not provided	2023-09-01	criteria provided, single submitter	clinical testing	BIN1: BP4, BP7
Genetic Services Laboratory, University of Chicago	RCV000145349	SCV000192428	likely benign	not specified		no assertion criteria provided	clinical testing