ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.1956C>T (p.Cys652=)

gnomAD frequency: 0.00001  dbSNP: rs367693437
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Total submissions: 3
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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 RCV000036070 SCV000059722 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing Cys652Cys in Exon 17 of MYO7A: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 1/3388 African Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS).
Counsyl RCV000670890 SCV000795803 likely benign Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 2017-11-17 criteria provided, single submitter clinical testing
Invitae RCV001405305 SCV001607223 likely benign not provided 2023-12-12 criteria provided, single submitter clinical testing

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