ClinVar Miner

Submissions for variant NM_001145026.2(PTPRQ):c.1233G>A (p.Thr411=)

gnomAD frequency: 0.00640  dbSNP: rs185755490
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000838369 SCV000980235 benign not provided 2018-05-04 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.
CeGaT Center for Human Genetics Tuebingen RCV000838369 SCV001334781 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing PTPRQ: BP4, BP7
Fulgent Genetics, Fulgent Genetics RCV002501167 SCV002805982 benign Autosomal recessive nonsyndromic hearing loss 84A; Hearing loss, autosomal dominant 73 2021-09-08 criteria provided, single submitter clinical testing

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