ClinVar Miner

Submissions for variant NM_006019.4(TCIRG1):c.477G>A (p.Gly159=)

gnomAD frequency: 0.00005  dbSNP: rs746159308
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000928957 SCV001074580 likely benign not provided 2024-01-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001276536 SCV002801265 likely benign Autosomal recessive osteopetrosis 1 2021-07-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276536 SCV001462928 uncertain significance Autosomal recessive osteopetrosis 1 2020-02-13 no assertion criteria provided clinical testing

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