ClinVar Miner

Submissions for variant NM_002351.5(SH2D1A):c.57C>T (p.Leu19=)

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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 RCV005189063 SCV005847691 likely benign X-linked lymphoproliferative disease due to SH2D1A deficiency 2024-03-26 criteria provided, single submitter clinical testing

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