ClinVar Miner

Submissions for variant NM_005334.3(HCFC1):c.3290A>C (p.Asn1097Thr)

gnomAD frequency: 0.00091  dbSNP: rs201404751
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000117215 SCV000151380 uncertain significance not provided 2014-03-27 criteria provided, single submitter clinical testing
GeneDx RCV000599889 SCV000725374 likely benign not specified 2017-12-22 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 RCV001520721 SCV001729896 benign Methylmalonic acidemia with homocystinuria, type cblX 2024-01-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000117215 SCV004165022 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing HCFC1: PP2, BP4, BS2
PreventionGenetics, part of Exact Sciences RCV003952568 SCV004776308 likely benign HCFC1-related condition 2020-09-30 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000117215 SCV001798028 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000117215 SCV001930386 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000117215 SCV001972886 likely benign not provided no assertion criteria provided clinical testing

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