ClinVar Miner

Submissions for variant NM_005334.3(HCFC1):c.2313C>T (p.Thr771=)

gnomAD frequency: 0.00147  dbSNP: rs145183787
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000605580 SCV000722372 likely benign not specified 2017-09-12 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.
Invitae RCV000904712 SCV001049248 benign not provided 2018-07-13 criteria provided, single submitter clinical testing
Invitae RCV001513643 SCV001721296 benign Methylmalonic acidemia with homocystinuria, type cblX 2021-06-18 criteria provided, single submitter clinical testing

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