ClinVar Miner

Submissions for variant NM_003978.5(PSTPIP1):c.36+15T>C

dbSNP: rs752123803
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000252946 SCV000309901 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000828191 SCV000969874 likely benign not provided 2018-06-01 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002519920 SCV003522613 likely benign Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2022-07-09 criteria provided, single submitter clinical testing

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