ClinVar Miner

Submissions for variant NM_014956.5(CEP164):c.1267C>T (p.Leu423=)

dbSNP: rs1481823946
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003648725 SCV004507279 likely benign Nephronophthisis 15 2024-02-08 criteria provided, single submitter clinical testing

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