ClinVar Miner

Submissions for variant NM_015374.3(SUN2):c.97A>G (p.Thr33Ala)

gnomAD frequency: 0.00592  dbSNP: rs2072799
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000549990 SCV000634482 benign Emery-Dreifuss muscular dystrophy 2025-01-30 criteria provided, single submitter clinical testing
GeneDx RCV001692170 SCV001908878 benign not provided 2021-05-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001692170 SCV005278740 benign not provided criteria provided, single submitter not provided

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