ClinVar Miner

Submissions for variant NM_020821.3(VPS13C):c.1484-2A>G

gnomAD frequency: 0.00156  dbSNP: rs143639809
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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 RCV000900675 SCV001045005 benign not provided 2023-09-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000900675 SCV004041936 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing VPS13C: PP3, BS2

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