ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.345G>A (p.Ser115=)

gnomAD frequency: 0.00001  dbSNP: rs781980240
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001464528 SCV001668501 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832603 SCV002093109 likely benign Usher syndrome type 1B 2020-11-10 no assertion criteria provided clinical testing

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