ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.5860C>G (p.Leu1954Val)

dbSNP: rs948962
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000270823 SCV000333323 uncertain significance not provided 2015-08-10 criteria provided, single submitter clinical testing
Invitae RCV000270823 SCV001676597 likely benign not provided 2024-01-27 criteria provided, single submitter clinical testing
GeneDx RCV000270823 SCV001772907 uncertain significance not provided 2023-07-18 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV001277330 SCV001464272 uncertain significance Usher syndrome type 1B 2020-04-17 no assertion criteria provided clinical testing

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