ClinVar Miner

Submissions for variant NM_001145026.2(PTPRQ):c.6024G>A (p.Ser2008=)

gnomAD frequency: 0.00001  dbSNP: rs1238341806
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences RCV001353200 SCV001442491 uncertain significance Sensorineural hearing loss disorder 2020-09-30 criteria provided, single submitter clinical testing

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