ClinVar Miner

Submissions for variant NM_015374.3(SUN2):c.656C>T (p.Pro219Leu)

gnomAD frequency: 0.01037  dbSNP: rs1883206
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 RCV000556934 SCV000634480 benign Emery-Dreifuss muscular dystrophy 2025-01-24 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004714053 SCV005278730 benign not provided criteria provided, single submitter not provided

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