ClinVar Miner

Submissions for variant NM_005334.3(HCFC1):c.5517C>T (p.Asp1839=)

gnomAD frequency: 0.00002  dbSNP: rs782063013
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000434101 SCV000522593 likely benign not specified 2016-02-15 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.
Genetic Services Laboratory, University of Chicago RCV000434101 SCV000595096 likely benign not specified 2016-07-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003522970 SCV004335608 benign Methylmalonic acidemia with homocystinuria, type cblX 2023-10-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004597798 SCV005092809 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing HCFC1: BP4, BP7, BS2

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