ClinVar Miner

Submissions for variant NM_032634.4(PIGO):c.512-17C>T

dbSNP: rs2240116
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000246221 SCV000314999 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000246221 SCV000519728 benign not specified 2016-01-09 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 RCV001522466 SCV001732019 benign Hyperphosphatasia with intellectual disability syndrome 2 2025-02-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004712219 SCV005272618 benign not provided criteria provided, single submitter not provided

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