ClinVar Miner

Submissions for variant NM_014956.5(CEP164):c.1135A>G (p.Ser379Gly)

gnomAD frequency: 0.00058  dbSNP: rs200122409
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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 RCV001512910 SCV001720410 benign Nephronophthisis 15 2023-12-22 criteria provided, single submitter clinical testing

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