ClinVar Miner

Submissions for variant NM_005334.3(HCFC1):c.3090C>T (p.Thr1030=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005108161 SCV005728376 likely benign Methylmalonic acidemia with homocystinuria, type cblX 2024-02-07 criteria provided, single submitter clinical testing

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