ClinVar Miner

Submissions for variant NM_033305.3(VPS13A):c.3078T>G (p.Thr1026=)

gnomAD frequency: 0.00171  dbSNP: rs141835897
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000863769 SCV001004481 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000863769 SCV001146629 benign not provided 2019-05-24 criteria provided, single submitter clinical testing
GeneDx RCV000863769 SCV001872804 likely benign not provided 2021-03-04 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001271526 SCV004564984 benign Chorea-acanthocytosis 2023-09-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271526 SCV001452757 uncertain significance Chorea-acanthocytosis 2020-01-24 no assertion criteria provided clinical testing

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