ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.5215C>A (p.Arg1739=)

gnomAD frequency: 0.00740  dbSNP: rs111033477
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Total submissions: 10
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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 RCV000036181 SCV000059833 benign not specified 2011-11-03 criteria provided, single submitter clinical testing Arg1739Arg in exon 38 of MYO7A: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located near a splice junction and has been identified in 2.9% (13/452 chromosomes) of a broa d population (dbSNP rs111033477).
Eurofins Ntd Llc (ga) RCV000036181 SCV000229890 benign not specified 2015-03-06 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224828 SCV000280900 likely benign not provided 2015-09-28 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Illumina Laboratory Services, Illumina RCV000285062 SCV000374432 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.
Illumina Laboratory Services, Illumina RCV000339967 SCV000374433 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 RCV000380573 SCV000374434 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000224828 SCV001022820 benign not provided 2025-02-02 criteria provided, single submitter clinical testing
GeneDx RCV000224828 SCV001858132 benign not provided 2018-07-26 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000224828 SCV005211603 likely benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001831640 SCV002088493 benign Usher syndrome type 1B 2019-12-06 no assertion criteria provided clinical testing

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