ClinVar Miner

Submissions for variant NM_005334.3(HCFC1):c.5601C>T (p.Ala1867=)

gnomAD frequency: 0.00076  dbSNP: rs144160012
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000613758 SCV000714379 benign not specified 2017-08-23 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000638560 SCV000760087 benign Methylmalonic acidemia with homocystinuria, type cblX 2024-01-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004714090 SCV005275015 benign not provided criteria provided, single submitter not provided

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