ClinVar Miner

Submissions for variant NM_015702.3(MMADHC):c.252C>T (p.Leu84=)

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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 RCV003017995 SCV003302171 likely benign Methylmalonic aciduria and homocystinuria type cblD 2022-01-19 criteria provided, single submitter clinical testing

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