ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.5466C>T (p.Thr1822=)

gnomAD frequency: 0.00004  dbSNP: rs548620787
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000944837 SCV001090818 likely benign not provided 2024-01-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000944837 SCV004702166 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing MYO7A: BP4, BP7
Natera, Inc. RCV001277327 SCV001464269 likely benign Usher syndrome type 1B 2020-09-03 no assertion criteria provided clinical testing

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