ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.5626C>T (p.Gln1876Ter)

gnomAD frequency: 0.00002  dbSNP: rs750274894
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673593 SCV000798815 uncertain significance Usher syndrome type 1F 2018-03-26 criteria provided, single submitter clinical testing
Invitae RCV002532149 SCV003441516 likely benign not provided 2023-07-17 criteria provided, single submitter clinical testing

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