ClinVar Miner

Submissions for variant NM_001378452.1(ITPR1):c.6147C>T (p.Thr2049=)

gnomAD frequency: 0.00025  dbSNP: rs144178989
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000925228 SCV001070762 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000925228 SCV001144279 benign not provided 2018-12-05 criteria provided, single submitter clinical testing

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