ClinVar Miner

Submissions for variant NM_006019.4(TCIRG1):c.243G>T (p.Pro81=)

dbSNP: rs756073508
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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 RCV000941029 SCV001086905 likely benign not provided 2023-12-21 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274550 SCV001458805 uncertain significance Autosomal recessive osteopetrosis 1 2020-01-24 no assertion criteria provided clinical testing

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