ClinVar Miner

Submissions for variant NM_006019.4(TCIRG1):c.1305+10G>A

gnomAD frequency: 0.00001  dbSNP: rs1405179710
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001463183 SCV001667119 likely benign not provided 2023-12-10 criteria provided, single submitter clinical testing
Natera, Inc. RCV001279338 SCV001466426 uncertain significance Autosomal recessive osteopetrosis 1 2020-04-15 no assertion criteria provided clinical testing

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