ClinVar Miner

Submissions for variant NM_002847.5(PTPRN2):c.1782C>G (p.Val594=)

dbSNP: rs117087228
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000963356 SCV001110507 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000963356 SCV004159366 likely benign not provided 2022-09-01 criteria provided, single submitter clinical testing PTPRN2: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics RCV000963356 SCV005269555 benign not provided criteria provided, single submitter not provided

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