ClinVar Miner

Submissions for variant NM_001378452.1(ITPR1):c.1614G>A (p.Leu538=)

dbSNP: rs1297659569
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001288211 SCV001475169 uncertain significance not provided 2020-03-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001288211 SCV004398750 likely benign not provided 2023-10-14 criteria provided, single submitter clinical testing

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