ClinVar Miner

Submissions for variant NM_005050.4(ABCD4):c.1691G>A (p.Arg564His)

dbSNP: rs1204078851
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001229074 SCV001401506 uncertain significance Methylmalonic acidemia with homocystinuria, type cblJ 2021-09-01 criteria provided, single submitter clinical testing

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