ClinVar Miner

Submissions for variant NM_014236.4(GNPAT):c.569-11del

dbSNP: rs199905093
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193168 SCV000247490 uncertain significance not specified 2014-10-21 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000248 SCV001156803 benign Rhizomelic chondrodysplasia punctata type 2 2023-11-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000676049 SCV001732318 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000676049 SCV001848554 benign not provided 2016-11-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000676049 SCV004009943 benign not provided 2024-08-01 criteria provided, single submitter clinical testing GNPAT: BS1, BS2
Mayo Clinic Laboratories, Mayo Clinic RCV000676049 SCV000801783 likely benign not provided 2015-12-16 no assertion criteria provided clinical testing

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