ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.4387_4389del (p.Ile1463del)

dbSNP: rs527236145
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002277280 SCV002566376 likely pathogenic Connective tissue disorder 2020-12-23 criteria provided, single submitter clinical testing
Laboratório de Genética Molecula, r University of Campinas - Unicamp RCV000132770 SCV000187745 not provided not provided no assertion provided not provided

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