ClinVar Miner

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

gnomAD frequency: 0.00035  dbSNP: rs190844812
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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 uncertain significance not provided 2019-05-01 criteria provided, single submitter clinical testing
Invitae RCV001511422 SCV001718665 benign Methylmalonic acidemia with homocystinuria, type cblX 2021-07-27 criteria provided, single submitter clinical testing

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