ClinVar Miner

Submissions for variant NM_001130965.3(SUN1):c.873G>A (p.Lys291=)

gnomAD frequency: 0.00004  dbSNP: rs373974517
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002064766 SCV002437029 likely benign Emery-Dreifuss muscular dystrophy 2024-03-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003432841 SCV004158708 likely benign not provided 2022-05-01 criteria provided, single submitter clinical testing SUN1: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics RCV003432841 SCV005228283 likely benign not provided criteria provided, single submitter not provided

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