ClinVar Miner

Submissions for variant NM_006019.4(TCIRG1):c.1165+1G>C

dbSNP: rs780745598
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Lab, Department of Haematology, Christian Medical College RCV002247759 SCV002516026 pathogenic Autosomal recessive osteopetrosis 1 2022-05-20 criteria provided, single submitter clinical testing

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