ClinVar Miner

Submissions for variant NM_001347702.2(SYNE1):c.1455C>T (p.Pro485=)

gnomAD frequency: 0.00008  dbSNP: rs761266231
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000596138 SCV000705995 uncertain significance not provided 2017-01-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001078930 SCV001017834 likely benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2024-10-17 criteria provided, single submitter clinical testing

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