ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.21330C>T (p.Thr7110=)

gnomAD frequency: 0.00302  dbSNP: rs75469773
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000251251 SCV000315126 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001722347 SCV000527490 likely benign not provided 2020-03-19 criteria provided, single submitter clinical testing
Invitae RCV000647731 SCV000769529 benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2024-01-16 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000251251 SCV001880847 benign not specified 2020-10-16 criteria provided, single submitter clinical testing

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