ClinVar Miner

Submissions for variant NM_033305.3(VPS13A):c.3804A>C (p.Arg1268=)

gnomAD frequency: 0.00001  dbSNP: rs527418139
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000865014 SCV001005914 benign not provided 2024-04-24 criteria provided, single submitter clinical testing
GeneDx RCV000865014 SCV001998053 uncertain significance not provided 2019-10-18 criteria provided, single submitter clinical testing Synonymous amino acid substitution; In silico analysis, which includes splice predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV001274081 SCV001457825 benign Chorea-acanthocytosis 2020-04-13 no assertion criteria provided clinical testing

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