ClinVar Miner

Submissions for variant NM_153741.2(DPM3):c.112C>T (p.Leu38=)

gnomAD frequency: 0.00028  dbSNP: rs368529799
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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 RCV001516662 SCV001724973 benign DPM3-congenital disorder of glycosylation 2024-09-09 criteria provided, single submitter clinical testing

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