ClinVar Miner

Submissions for variant NM_005334.3(HCFC1):c.4068C>T (p.Pro1356=)

gnomAD frequency: 0.00101  dbSNP: rs185998087
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000423087 SCV000517932 benign not specified 2016-06-12 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 RCV001088878 SCV001116905 benign Methylmalonic acidemia with homocystinuria, type cblX 2024-01-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000969389 SCV001150505 likely benign not provided 2018-04-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000423087 SCV001927239 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000423087 SCV001966288 benign not specified no assertion criteria provided clinical testing

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