ClinVar Miner

Submissions for variant NM_006019.4(TCIRG1):c.2119-9G>A

gnomAD frequency: 0.00004  dbSNP: rs761413420
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 RCV001491485 SCV001696083 likely benign not provided 2023-12-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV001279733 SCV001466854 uncertain significance Autosomal recessive osteopetrosis 1 2020-10-21 no assertion criteria provided clinical testing

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