ClinVar Miner

Submissions for variant NM_144773.4(PROKR2):c.742C>T (p.Arg248Trp)

gnomAD frequency: 0.00003  dbSNP: rs483352766
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV000087251 SCV002568168 uncertain significance not provided 2022-06-01 criteria provided, single submitter clinical testing PS3_Moderate, PM2
Fulgent Genetics, Fulgent Genetics RCV002490755 SCV002787675 uncertain significance Hypogonadotropic hypogonadism 3 with or without anosmia 2021-10-20 criteria provided, single submitter clinical testing
Richard Lifton Laboratory, Yale University School of Medicine RCV000087251 SCV000120114 unknown not provided flagged submission not provided Converted during submission to Uncertain significance.
Richard Lifton Laboratory, Yale University School of Medicine RCV000087251 SCV000155218 unknown not provided no assertion criteria provided not provided Converted during submission to Uncertain significance.

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