ClinVar Miner

Submissions for variant NM_006019.4(TCIRG1):c.2414G>A (p.Trp805Ter)

dbSNP: rs1555000308
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674141 SCV000799424 uncertain significance Autosomal recessive osteopetrosis 1 2018-04-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000674141 SCV005684269 likely pathogenic Autosomal recessive osteopetrosis 1 2024-02-21 criteria provided, single submitter clinical testing

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