ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.6309C>T (p.Leu2103=)

gnomAD frequency: 0.00016  dbSNP: rs371789765
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000901809 SCV001046197 likely benign not provided 2023-12-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV001830967 SCV002088541 likely benign Usher syndrome type 1B 2020-02-05 no assertion criteria provided clinical testing

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