ClinVar Miner

Submissions for variant NM_014425.5(INVS):c.1317C>T (p.Cys439=)

gnomAD frequency: 0.00001  dbSNP: rs886063266
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000369470 SCV000475963 uncertain significance Nephronophthisis 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000369470 SCV002482562 likely benign Nephronophthisis 2023-06-15 criteria provided, single submitter clinical testing

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