ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.5835C>T (p.Leu1945=)

gnomAD frequency: 0.00408  dbSNP: rs111033476
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Total submissions: 8
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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 RCV000036207 SCV000059859 benign not specified 2012-04-27 criteria provided, single submitter clinical testing Leu1945Leu in exon 42 of MYO7A: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, has been identified in 0.9% (30/3396) of Africa n American chromosomes from a broad population by the NHLBI Exome sequencing pro ject (http://evs.gs.washington.edu/EVS/; dbSNP rs77469944).
Eurofins Ntd Llc (ga) RCV000036207 SCV000230564 benign not specified 2015-03-06 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000278156 SCV000374475 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 RCV000335511 SCV000374476 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 RCV000406804 SCV000374477 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.
Invitae RCV000879812 SCV001022865 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000879812 SCV001849672 benign not provided 2018-07-26 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275524 SCV001460739 benign Usher syndrome type 1B 2020-09-16 no assertion criteria provided clinical testing

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