ClinVar Miner

Submissions for variant NM_006019.4(TCIRG1):c.417+10C>T

gnomAD frequency: 0.00001  dbSNP: rs1224261645
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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 RCV000927537 SCV001073122 likely benign not provided 2018-06-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276534 SCV001462925 uncertain significance Autosomal recessive osteopetrosis 1 2020-02-13 no assertion criteria provided clinical testing

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