ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.4619C>T (p.Ala1540Val)

gnomAD frequency: 0.00003  dbSNP: rs111033511
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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 RCV000036155 SCV000059807 likely benign not specified 2017-03-22 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000036155 SCV000604429 uncertain significance not specified 2017-01-05 criteria provided, single submitter clinical testing
Invitae RCV000926624 SCV001072187 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Pars Genome Lab RCV001526433 SCV001736824 likely benign Usher syndrome type 1 2021-05-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001578682 SCV001805953 likely benign Autosomal dominant nonsyndromic hearing loss 11 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001578683 SCV001805954 likely benign Autosomal recessive nonsyndromic hearing loss 2 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001526433 SCV001805955 likely benign Usher syndrome type 1 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV000926624 SCV001826974 likely benign not provided 2020-10-06 criteria provided, single submitter clinical testing

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