ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.2526C>T (p.Thr842=)

gnomAD frequency: 0.00001  dbSNP: rs782594184
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000979759 SCV001127704 likely benign not provided 2024-01-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276693 SCV001463201 uncertain significance Usher syndrome type 1B 2020-01-24 no assertion criteria provided clinical testing

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