ClinVar Miner

Submissions for variant NM_005334.3(HCFC1):c.5949C>T (p.Ile1983=)

gnomAD frequency: 0.00006  dbSNP: rs372071273
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000614416 SCV000723550 likely benign not specified 2017-10-20 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 RCV003638692 SCV004561631 benign Methylmalonic acidemia with homocystinuria, type cblX 2023-12-14 criteria provided, single submitter clinical testing

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