ClinVar Miner

Submissions for variant NM_002351.5(SH2D1A):c.373C>T (p.Leu125=)

gnomAD frequency: 0.00001  dbSNP: rs1230442586
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002151524 SCV002466929 likely benign X-linked lymphoproliferative disease due to SH2D1A deficiency 2020-11-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004704803 SCV005206754 likely benign not provided criteria provided, single submitter not provided

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