ClinVar Miner

Submissions for variant NM_005334.3(HCFC1):c.2859C>T (p.Pro953=)

gnomAD frequency: 0.00002  dbSNP: rs1436495630
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001502555 SCV001707389 likely benign Methylmalonic acidemia with homocystinuria, type cblX 2021-08-09 criteria provided, single submitter clinical testing

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