ClinVar Miner

Submissions for variant NM_031475.3(ESPN):c.1797_1808del (p.Pro602_Pro605del)

dbSNP: rs548962140
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000662342 SCV000717902 benign not provided 2018-09-14 criteria provided, single submitter clinical testing
Invitae RCV000662342 SCV001094741 benign not provided 2023-12-11 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000662342 SCV001477734 benign not provided 2019-12-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000662342 SCV004128066 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing ESPN: BS2
GenomeConnect, ClinGen RCV000662342 SCV000784709 not provided not provided no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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