ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.12560A>T (p.Asn4187Ile)

gnomAD frequency: 0.00262  dbSNP: rs34480732
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000313338 SCV000339518 likely benign not specified 2016-09-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000647583 SCV000769381 likely benign Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2023-12-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003311739 SCV004010292 benign not provided 2024-04-01 criteria provided, single submitter clinical testing SYNE2: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV003311739 SCV005212146 likely benign not provided criteria provided, single submitter not provided

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