ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.8247del (p.Asp2750fs)

dbSNP: rs2151900685
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002278142 SCV002566341 likely pathogenic Ehlers-Danlos syndrome 2019-05-01 criteria provided, single submitter clinical testing

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