ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.39C>A (p.Asp13Glu)

gnomAD frequency: 0.00088  dbSNP: rs199989979
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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) RCV000177023 SCV000228832 uncertain significance not provided 2014-07-09 criteria provided, single submitter clinical testing
Invitae RCV000177023 SCV001596643 likely benign not provided 2024-01-30 criteria provided, single submitter clinical testing
GeneDx RCV000177023 SCV001794021 uncertain significance not provided 2021-10-13 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. RCV001278603 SCV001465631 uncertain significance Usher syndrome type 1B 2020-04-16 no assertion criteria provided clinical testing

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