ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.10803C>T (p.Leu3601=)

gnomAD frequency: 0.00003  dbSNP: rs759124319
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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 RCV002278090 SCV002566181 uncertain significance Ehlers-Danlos syndrome 2019-02-01 criteria provided, single submitter clinical testing

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