ClinVar Miner

Submissions for variant NM_015702.3(MMADHC):c.855A>T (p.Pro285=)

gnomAD frequency: 0.00001  dbSNP: rs768988562
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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 RCV000941994 SCV001087904 likely benign Methylmalonic aciduria and homocystinuria type cblD 2024-02-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV000941994 SCV001455036 likely benign Methylmalonic aciduria and homocystinuria type cblD 2020-09-16 no assertion criteria provided clinical testing

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