ClinVar Miner

Submissions for variant NM_024577.3(SH3TC2):c.1402_1403delinsTT (p.Ala468Phe) (rs863224780)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000659032 SCV000255066 likely benign not provided 2019-03-04 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000507515 SCV000605105 uncertain significance not specified 2017-02-02 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000659032 SCV000780836 uncertain significance not provided 2018-02-28 criteria provided, single submitter clinical testing
Genesis Genome Database RCV000857153 SCV000999734 uncertain significance Charcot-Marie-Tooth disease 2019-08-14 no assertion criteria provided research
Genesis Genome Database RCV000857154 SCV000999735 uncertain significance Distal spinal muscular atrophy 2019-08-14 no assertion criteria provided research

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