ClinVar Miner

Submissions for variant NM_015374.3(SUN2):c.485C>T (p.Ala162Val)

gnomAD frequency: 0.00464  dbSNP: rs62639696
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000558288 SCV000634477 benign Emery-Dreifuss muscular dystrophy 2025-01-06 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004714052 SCV005278732 benign not provided criteria provided, single submitter not provided

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