ClinVar Miner

Submissions for variant NM_001130965.3(SUN1):c.1512C>T (p.Ala504=)

gnomAD frequency: 0.00001  dbSNP: rs748209663
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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 RCV001419345 SCV001621597 likely benign Emery-Dreifuss muscular dystrophy 2023-08-21 criteria provided, single submitter clinical testing

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