ClinVar Miner

Submissions for variant NM_012120.3(CD2AP):c.62G>A (p.Arg21Gln)

dbSNP: rs559978848
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001417655 SCV001619860 likely benign not provided 2021-04-12 criteria provided, single submitter clinical testing
Genetic Testing Lab, Ashok and Rita Patel Institute of Integrated Study and Research in Biotechnology and Allied Sciences RCV001261433 SCV001438715 drug response Corticosteroids response 2020-01-12 no assertion criteria provided research Depending upon response to standard corticosteroid therapy, patients were classified to be either Steroid resistant (SRNS) or steroid sensitive (SSNS). Patients in remission within 4 weeks of corticosteroid therapy were classified as steroid sensitive nephrotic syndrome (SSNS). Patients not in remission within 4 weeks of corticosteroid therapy were classified as Steroid resistant nephrotic syndrome (SRNS).

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