ClinVar Miner

Submissions for variant NM_005334.3(HCFC1):c.4942+8C>T

gnomAD frequency: 0.00020  dbSNP: rs1013019333
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001451179 SCV001654805 likely benign Methylmalonic acidemia with homocystinuria, type cblX 2023-12-25 criteria provided, single submitter clinical testing

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