ClinVar Miner

Submissions for variant NM_005334.3(HCFC1):c.4203C>G (p.Pro1401=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003405102 SCV004121804 likely benign not specified 2023-10-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003638955 SCV004504246 likely benign Methylmalonic acidemia with homocystinuria, type cblX 2023-03-07 criteria provided, single submitter clinical testing

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