ClinVar Miner

Submissions for variant NM_005334.3(HCFC1):c.5298G>A (p.Pro1766=)

gnomAD frequency: 0.00071  dbSNP: rs377035512
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000441870 SCV000521864 likely benign not specified 2017-11-20 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 RCV001078679 SCV001107629 benign Methylmalonic acidemia with homocystinuria, type cblX 2024-01-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000960626 SCV001150498 likely benign not provided 2018-09-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000960626 SCV001931193 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000960626 SCV001975631 likely benign not provided no assertion criteria provided clinical testing

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