ClinVar Miner

Submissions for variant NM_006019.4(TCIRG1):c.1346_1351del (p.Leu449_Gly451delinsArg)

dbSNP: rs2134455141
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV001526395 SCV001736729 likely pathogenic Autosomal recessive osteopetrosis 1 2021-03-08 criteria provided, single submitter clinical testing

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