ClinVar Miner

Submissions for variant NM_020821.3(VPS13C):c.7274C>T (p.Thr2425Met)

gnomAD frequency: 0.00004  dbSNP: rs547200034
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001332172 SCV001524405 uncertain significance Autosomal recessive early-onset Parkinson disease 23 2020-01-22 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Revvity Omics, Revvity RCV001332172 SCV003820447 uncertain significance Autosomal recessive early-onset Parkinson disease 23 2022-12-15 criteria provided, single submitter clinical testing

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