ClinVar Miner

Submissions for variant NM_016579.4(CD320):c.840G>A (p.Ser280=)

gnomAD frequency: 0.00264  dbSNP: rs2232787
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000958756 SCV000520444 likely benign not provided 2018-11-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001521795 SCV001731200 benign Methylmalonic acidemia due to transcobalamin receptor defect 2025-01-22 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000958756 SCV005208116 likely benign not provided criteria provided, single submitter not provided

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