ClinVar Miner

Submissions for variant NM_033453.4(ITPA):c.345C>T (p.Leu115=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003059486 SCV003345153 likely benign Inosine triphosphatase deficiency 2022-07-08 criteria provided, single submitter clinical testing

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