ClinVar Miner

Submissions for variant NM_005334.3(HCFC1):c.5423A>G (p.Lys1808Arg)

gnomAD frequency: 0.00004  dbSNP: rs1342469676
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001248497 SCV001421986 likely benign Methylmalonic acidemia with homocystinuria, type cblX 2023-09-13 criteria provided, single submitter clinical testing
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV001814290 SCV002061625 uncertain significance not provided 2021-04-22 criteria provided, single submitter clinical testing PM2

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