ClinVar Miner

Submissions for variant NM_005334.3(HCFC1):c.1084+18G>T

dbSNP: rs782811477
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000611823 SCV000723836 likely benign not specified 2017-10-26 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 RCV003767625 SCV004666103 likely benign Methylmalonic acidemia with homocystinuria, type cblX 2023-11-14 criteria provided, single submitter clinical testing

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