ClinVar Miner

Submissions for variant NM_016579.4(CD320):c.722G>A (p.Ser241Asn)

gnomAD frequency: 0.00051  dbSNP: rs140803270
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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 RCV001451657 SCV001655296 likely benign Methylmalonic acidemia due to transcobalamin receptor defect 2023-07-07 criteria provided, single submitter clinical testing

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