ClinVar Miner

Submissions for variant NM_005334.3(HCFC1):c.4911G>A (p.Ala1637=)

gnomAD frequency: 0.00007  dbSNP: rs374047752
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000615116 SCV000716357 likely benign not specified 2017-03-07 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV003522993 SCV004307405 likely benign Methylmalonic acidemia with homocystinuria, type cblX 2024-01-18 criteria provided, single submitter clinical testing

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