ClinVar Miner

Submissions for variant NM_006019.4(TCIRG1):c.2450dup (p.Tyr818fs)

dbSNP: rs1590819834
Minimum review status: Collection method:
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology RCV000855724 SCV000998754 likely pathogenic Autosomal recessive osteopetrosis 1 2019-07-22 criteria provided, single submitter clinical testing

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