ClinVar Miner

Submissions for variant NM_005334.3(HCFC1):c.3211G>A (p.Val1071Met)

gnomAD frequency: 0.00035  dbSNP: rs190844812
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000996056 SCV001150506 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing HCFC1: PP2, BS2
Invitae RCV001511422 SCV001718665 benign Methylmalonic acidemia with homocystinuria, type cblX 2024-01-31 criteria provided, single submitter clinical testing

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