ClinVar Miner

Submissions for variant NM_005334.3(HCFC1):c.3718G>A (p.Ala1240Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003351483 SCV004065704 likely benign Inborn genetic diseases 2023-06-16 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV003523164 SCV004284090 benign Methylmalonic acidemia with homocystinuria, type cblX 2024-01-31 criteria provided, single submitter clinical testing

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