ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.3663C>T (p.Ala1221=)

gnomAD frequency: 0.00099  dbSNP: rs112144165
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000247519 SCV000316276 benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000247519 SCV000339418 likely benign not specified 2017-07-06 criteria provided, single submitter clinical testing
Invitae RCV000549242 SCV000636162 benign Nephronophthisis 2024-01-30 criteria provided, single submitter clinical testing
GeneDx RCV001722362 SCV000721109 likely benign not provided 2021-10-19 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002294208 SCV002587752 likely benign Kidney disorder 2017-02-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494775 SCV002802899 likely benign Renal-hepatic-pancreatic dysplasia 1; Nephronophthisis 3; NPHP3-related Meckel-like syndrome 2021-12-05 criteria provided, single submitter clinical testing

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