ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.4996A>T (p.Ser1666Cys)

gnomAD frequency: 0.59864  dbSNP: rs2276288
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Total submissions: 13
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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 RCV000036174 SCV000059826 benign not specified 2007-03-08 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000036174 SCV000229810 benign not specified 2014-06-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000036174 SCV000303301 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000389186 SCV000374411 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina RCV000294774 SCV000374412 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina RCV000335830 SCV000374413 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV001512276 SCV001719662 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000335830 SCV001749141 benign Autosomal dominant nonsyndromic hearing loss 11 2021-07-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000294774 SCV001749142 benign Autosomal recessive nonsyndromic hearing loss 2 2021-07-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000389186 SCV001749143 benign Usher syndrome type 1 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV001512276 SCV001937781 benign not provided 2015-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 25342930, 19320733, 21569298)
Breakthrough Genomics, Breakthrough Genomics RCV001512276 SCV005230007 benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001273505 SCV001456616 benign Usher syndrome type 1B 2020-09-16 no assertion criteria provided clinical testing

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