ClinVar Miner

Submissions for variant NM_001145026.2(PTPRQ):c.5061T>C (p.Pro1687=)

gnomAD frequency: 0.00581  dbSNP: rs186848048
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000992734 SCV001145243 benign not provided 2019-03-13 criteria provided, single submitter clinical testing
GeneDx RCV000992734 SCV001802773 likely benign not provided 2021-01-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489477 SCV002807322 benign Autosomal recessive nonsyndromic hearing loss 84A; Hearing loss, autosomal dominant 73 2021-08-12 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000992734 SCV004135520 likely benign not provided 2025-02-01 criteria provided, single submitter clinical testing PTPRQ: BP4, BP7, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000992734 SCV005216181 likely benign not provided criteria provided, single submitter not provided

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