ClinVar Miner

Submissions for variant NM_005334.3(HCFC1):c.2577C>T (p.Pro859=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003065252 SCV003454025 benign Methylmalonic acidemia with homocystinuria, type cblX 2024-01-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003435862 SCV004165026 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing HCFC1: BP4, BP7

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