ClinVar Miner

Submissions for variant NM_015114.3(ANKLE2):c.530C>T (p.Ser177Leu)

gnomAD frequency: 0.00081  dbSNP: rs185977448
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000974391 SCV001122213 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000974391 SCV001818247 uncertain significance not provided 2023-06-20 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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