ClinVar Miner

Submissions for variant NM_006019.4(TCIRG1):c.1488G>A (p.Thr496=)

gnomAD frequency: 0.00002  dbSNP: rs368168053
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 RCV000935778 SCV001081530 likely benign not provided 2024-01-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271621 SCV001452905 uncertain significance Autosomal recessive osteopetrosis 1 2020-03-10 no assertion criteria provided clinical testing

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