ClinVar Miner

Submissions for variant NM_005334.3(HCFC1):c.2029-17C>T

gnomAD frequency: 0.00001  dbSNP: rs1184396495
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000842654 SCV000984684 likely benign not provided 2018-05-08 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 RCV003638716 SCV004481016 likely benign Methylmalonic acidemia with homocystinuria, type cblX 2023-08-11 criteria provided, single submitter clinical testing

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