ClinVar Miner

Submissions for variant NM_006019.4(TCIRG1):c.2358T>A (p.Ala786=)

gnomAD frequency: 0.00001  dbSNP: rs776554801
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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 RCV000978314 SCV001126242 likely benign not provided 2023-05-21 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271627 SCV001452918 uncertain significance Autosomal recessive osteopetrosis 1 2020-01-24 no assertion criteria provided clinical testing

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