ClinVar Miner

Submissions for variant NM_006019.4(TCIRG1):c.426C>T (p.Ala142=)

gnomAD frequency: 0.00001  dbSNP: rs1006980323
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000910064 SCV001054907 likely benign not provided 2023-12-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276535 SCV001462926 uncertain significance Autosomal recessive osteopetrosis 1 2020-04-15 no assertion criteria provided clinical testing

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