ClinVar Miner

Submissions for variant NM_005050.4(ABCD4):c.1495T>C (p.Leu499=)

gnomAD frequency: 0.00005  dbSNP: rs561519173
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001407387 SCV001609362 likely benign Methylmalonic acidemia with homocystinuria, type cblJ 2022-09-12 criteria provided, single submitter clinical testing

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