ClinVar Miner

Submissions for variant NM_006019.4(TCIRG1):c.1674-8C>T

gnomAD frequency: 0.00002  dbSNP: rs754864356
Minimum review status: Collection method:
Minimum conflict level:
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 RCV000920829 SCV001066208 likely benign not provided 2023-09-10 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271622 SCV001452907 uncertain significance Autosomal recessive osteopetrosis 1 2020-01-24 no assertion criteria provided clinical testing

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