ClinVar Miner

Submissions for variant NM_006019.4(TCIRG1):c.2397C>T (p.His799=)

gnomAD frequency: 0.00053  dbSNP: rs141356870
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000262140 SCV000335799 uncertain significance not provided 2015-10-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000262140 SCV001038551 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271628 SCV001452919 uncertain significance Autosomal recessive osteopetrosis 1 2020-04-16 no assertion criteria provided clinical testing

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