ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.93C>T (p.Cys31=)

dbSNP: rs35689081
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000036252 SCV000059904 benign not specified 2009-12-09 criteria provided, single submitter clinical testing Cys31Cys in Exon 3 of MYO7A: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue, is not located near a s plice site, and has been identified in 5.5% (234/4260) of African American chrom osomes by the NHLBI Exome sequencing project (http://evs.gs.washington.edu/EVS/; dbSNP rs35689081).
PreventionGenetics, part of Exact Sciences RCV000036252 SCV000303315 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000357024 SCV000374156 likely benign Autosomal recessive nonsyndromic hearing loss 2 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina RCV000273950 SCV000374157 likely benign Usher syndrome type 1 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina RCV000331379 SCV000374158 likely benign Autosomal dominant nonsyndromic hearing loss 11 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx RCV000036252 SCV000730250 benign not specified 2017-05-09 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.
Invitae RCV000960115 SCV001107063 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000036252 SCV001476556 benign not specified 2019-09-30 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275884 SCV001461534 benign Usher syndrome type 1B 2020-09-16 no assertion criteria provided clinical testing

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