ClinVar Miner

Submissions for variant NM_002351.4(SH2D1A):c.-346C>T

gnomAD frequency: 0.43694  dbSNP: rs12164382
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000314167 SCV000481701 benign X-linked lymphoproliferative disease due to SH2D1A deficiency 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Invitae RCV000314167 SCV001719127 benign X-linked lymphoproliferative disease due to SH2D1A deficiency 2020-11-24 criteria provided, single submitter clinical testing
GeneDx RCV000960468 SCV001949057 benign not provided 2019-01-10 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 22425739)
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002263665 SCV002542498 benign Autoinflammatory syndrome 2022-01-14 criteria provided, single submitter clinical testing

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