ClinVar Miner

Submissions for variant NM_005334.3(HCFC1):c.4245G>A (p.Arg1415=)

gnomAD frequency: 0.00037  dbSNP: rs782660801
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000880816 SCV001023938 likely benign Methylmalonic acidemia with homocystinuria, type cblX 2024-01-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003920519 SCV004737959 likely benign HCFC1-related condition 2020-07-01 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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