ClinVar Miner

Submissions for variant NM_002224.4(ITPR3):c.4735G>A (p.Val1579Ile)

gnomAD frequency: 0.00092  dbSNP: rs141508541
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000912529 SCV001057639 likely benign not provided 2018-07-15 criteria provided, single submitter clinical testing

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