ClinVar Miner

Submissions for variant NM_001145026.2(PTPRQ):c.6568G>T (p.Ala2190Ser)

gnomAD frequency: 0.00034  dbSNP: rs199746225
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001590558 SCV001825679 likely benign not provided 2020-12-31 criteria provided, single submitter clinical testing
Daryl Scott Lab, Baylor College of Medicine RCV003399400 SCV004102665 likely benign Autosomal recessive nonsyndromic hearing loss 84A 2023-11-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001590558 SCV004135525 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing PTPRQ: BS2
Breakthrough Genomics, Breakthrough Genomics RCV001590558 SCV005216186 likely benign not provided criteria provided, single submitter not provided

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