ClinVar Miner

Submissions for variant NM_001080517.3(SETD5):c.759_760del (p.Ile253_Asn254insTer)

dbSNP: rs2125171543
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratoire Génétique Moléculaire, CHRU TOURS RCV001541934 SCV001760566 pathogenic not provided 2020-09-08 criteria provided, single submitter clinical testing

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