ClinVar Miner

Submissions for variant NM_000116.5(TAFAZZIN):c.327C>T (p.His109=)

dbSNP: rs1569552726
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000770595 SCV000902044 likely benign Cardiomyopathy 2016-08-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003621571 SCV004428536 likely benign 3-Methylglutaconic aciduria type 2 2023-01-30 criteria provided, single submitter clinical testing

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