ClinVar Miner

Submissions for variant NM_015702.3(MMADHC):c.510T>C (p.Asn170=)

gnomAD frequency: 0.00006  dbSNP: rs745423033
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001417536 SCV001619740 likely benign Methylmalonic aciduria and homocystinuria type cblD 2025-01-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003438782 SCV004154097 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing MMADHC: BP4, BP7

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