ClinVar Miner

Submissions for variant NM_000297.4(PKD2):c.368G>A (p.Arg123Gln)

dbSNP: rs1578111487
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GenomeConnect, ClinGen RCV000844924 SCV000986739 not provided Polycystic kidney disease 2 no assertion provided phenotyping only Variant interpretted as Uncertain significance and reported on 03/26/2018 by GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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