ClinVar Miner

Submissions for variant NM_000116.5(TAFAZZIN):c.534C>T (p.Phe178=)

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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 RCV002460500 SCV002755878 likely benign Cardiovascular phenotype 2021-04-28 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 RCV003103066 SCV003313483 likely benign 3-Methylglutaconic aciduria type 2 2024-02-20 criteria provided, single submitter clinical testing

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