ClinVar Miner

Submissions for variant NM_005334.3(HCFC1):c.4026G>A (p.Thr1342=)

gnomAD frequency: 0.00003  dbSNP: rs201491358
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
Invitae RCV003523036 SCV001051618 benign Methylmalonic acidemia with homocystinuria, type cblX 2023-12-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000906947 SCV004165015 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing HCFC1: BP4, BP7, BS2

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