ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.3669C>T (p.Tyr1223=)

gnomAD frequency: 0.00003  dbSNP: rs727504631
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Total submissions: 4
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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 RCV000155891 SCV000205602 likely benign not specified 2013-07-05 criteria provided, single submitter clinical testing Tyr1223Tyr in Exon 29 of MYO7A: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence.
Counsyl RCV000666779 SCV000791133 likely benign Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 2017-05-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001395864 SCV001597581 likely benign not provided 2024-12-28 criteria provided, single submitter clinical testing
GeneDx RCV001395864 SCV005328295 likely benign not provided 2020-09-04 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.

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