ClinVar Miner

Submissions for variant NM_020821.3(VPS13C):c.8738G>A (p.Ser2913Asn)

gnomAD frequency: 0.54075  dbSNP: rs10851704
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001674851 SCV001890706 benign not provided 2021-05-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001674851 SCV002348478 benign not provided 2025-02-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002243387 SCV002514497 benign Autosomal recessive early-onset Parkinson disease 23 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001674851 SCV005290046 benign not provided criteria provided, single submitter not provided

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