ClinVar Miner

Submissions for variant NM_005334.3(HCFC1):c.503+14C>G

gnomAD frequency: 0.00068  dbSNP: rs371163886
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514082 SCV000610018 likely benign not provided 2017-08-14 criteria provided, single submitter clinical testing
GeneDx RCV000613088 SCV000730785 likely benign not specified 2017-11-29 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 RCV001511495 SCV001718755 benign Methylmalonic acidemia with homocystinuria, type cblX 2024-11-19 criteria provided, single submitter clinical testing

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