ClinVar Miner

Submissions for variant NM_014956.5(CEP164):c.3225C>T (p.Thr1075=)

gnomAD frequency: 0.00210  dbSNP: rs144421639
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001081490 SCV001021029 benign Nephronophthisis 15 2024-01-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000878169 SCV001148464 likely benign not provided 2018-05-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001081490 SCV002806005 likely benign Nephronophthisis 15 2021-09-28 criteria provided, single submitter clinical testing

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