ClinVar Miner

Submissions for variant NM_014956.5(CEP164):c.3144T>A (p.Val1048=)

dbSNP: rs886038608
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000251246 SCV000312273 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002518642 SCV003289687 likely benign Nephronophthisis 15 2022-11-28 criteria provided, single submitter clinical testing

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