ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.2208G>A (p.Leu736=)

gnomAD frequency: 0.00022  dbSNP: rs373599360
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000281308 SCV000336017 uncertain significance not provided 2015-10-01 criteria provided, single submitter clinical testing
Invitae RCV000281308 SCV001391713 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV001828195 SCV002086605 uncertain significance Usher syndrome type 1B 2019-11-11 no assertion criteria provided clinical testing

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