ClinVar Miner

Submissions for variant NM_005334.3(HCFC1):c.3963A>G (p.Pro1321=)

gnomAD frequency: 0.00029  dbSNP: rs377467572
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000610345 SCV000732863 likely benign not specified 2017-06-27 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory, University of Chicago RCV000610345 SCV002065512 benign not specified 2017-12-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002066908 SCV002419188 benign Methylmalonic acidemia with homocystinuria, type cblX 2025-01-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002263834 SCV002546212 likely benign not provided 2022-05-01 criteria provided, single submitter clinical testing HCFC1: BP4, BP7

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