Submissions for variant NM_016239.4(MYO15A):c.5965-8C>T

gnomAD frequency: 0.00011  dbSNP: rs766643065

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000370537	SCV000401164	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.
Invitae	RCV000902356	SCV001046775	likely benign	not provided	2024-01-11	criteria provided, single submitter	clinical testing
GeneDx	RCV000902356	SCV002504564	likely benign	not provided	2019-11-18	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.