ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.2025C>T (p.Arg675=)

gnomAD frequency: 0.00001  dbSNP: rs797044658
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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) RCV000175132 SCV000226565 uncertain significance not provided 2014-12-19 criteria provided, single submitter clinical testing
Invitae RCV000175132 SCV001130669 likely benign not provided 2024-01-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276684 SCV001463192 uncertain significance Usher syndrome type 1B 2020-01-24 no assertion criteria provided clinical testing

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