Submissions for variant NM_016239.4(MYO15A):c.8811C>T (p.His2937=)

gnomAD frequency: 0.00190  dbSNP: rs200583193

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000151418	SCV000199436	benign	not specified	2017-05-31	criteria provided, single submitter	clinical testing	p.His2937His in Exon 51 of MYO15A: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wi thin the splice consensus sequence, and It has been identified in 0.3% (392/1234 32) European chromosomes including 1 homozygote by the Genome Aggregation Databa se (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs200583193).
Illumina Laboratory Services, Illumina	RCV000390879	SCV000401202	uncertain significance	Autosomal recessive nonsyndromic hearing loss 3	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.
GeneDx	RCV000151418	SCV000718729	likely benign	not specified	2017-09-28	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000886033	SCV001029516	benign	not provided	2024-01-24	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000886033	SCV001144653	benign	not provided	2018-11-05	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000886033	SCV004142408	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	MYO15A: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV003935270	SCV004754197	likely benign	MYO15A-related disorder	2019-04-08	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).