ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.4153-11C>T

gnomAD frequency: 0.00001  dbSNP: rs727503330
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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 RCV000151506 SCV000199594 likely benign not specified 2014-07-01 criteria provided, single submitter clinical testing 4153-11C>T in intron 31 of MYO7A: This variant is not expected to have clinical significance because a C>T change at this position does not diverge from the spl ice consensus sequence and is therefore unlikely to impact splicing.
Counsyl RCV000672424 SCV000797528 uncertain significance Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 2018-02-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005055624 SCV005699148 likely benign not provided 2024-02-02 criteria provided, single submitter clinical testing

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