ClinVar Miner

Submissions for variant NM_005050.4(ABCD4):c.867C>T (p.Ile289=)

gnomAD frequency: 0.00013  dbSNP: rs138775118
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000909970 SCV000523243 likely benign not provided 2018-06-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002519551 SCV001054810 likely benign Methylmalonic acidemia with homocystinuria, type cblJ 2024-10-26 criteria provided, single submitter clinical testing

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