ClinVar Miner

Submissions for variant NM_022173.4(TIA1):c.1070A>G (p.Asn357Ser) (rs116621885)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000250393 SCV000314022 uncertain significance Welander distal myopathy 2016-12-21 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000516506 SCV000615811 benign not specified 2017-01-24 criteria provided, single submitter clinical testing
Invitae RCV000250393 SCV000630375 benign Welander distal myopathy 2020-12-07 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000859341 SCV001152327 uncertain significance not provided 2016-06-01 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000859341 SCV001713995 uncertain significance not provided 2020-11-02 criteria provided, single submitter clinical testing

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