ClinVar Miner

Submissions for variant NM_006019.4(TCIRG1):c.418-21A>G

dbSNP: rs1855249165
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Total submissions: 2
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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 RCV001289557 SCV001477511 uncertain significance Autosomal recessive osteopetrosis 1 2020-12-17 criteria provided, single submitter clinical testing
Baylor Genetics RCV001289557 SCV004205811 likely pathogenic Autosomal recessive osteopetrosis 1 2022-10-22 criteria provided, single submitter clinical testing

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