ClinVar Miner

Submissions for variant NM_014956.5(CEP164):c.395C>G (p.Ala132Gly)

dbSNP: rs61746874
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000650289 SCV000772129 benign Nephronophthisis 15 2024-01-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004707398 SCV005232240 benign not provided criteria provided, single submitter not provided

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