ClinVar Miner

Submissions for variant NM_001382391.1(CSPP1):c.1977T>C (p.Thr659=)

gnomAD frequency: 0.00835  dbSNP: rs114177619
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000558436 SCV000654875 benign Joubert syndrome 21 2025-01-30 criteria provided, single submitter clinical testing
GeneDx RCV000615327 SCV000729630 benign not specified 2017-07-31 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Breakthrough Genomics, Breakthrough Genomics RCV001726238 SCV005268467 benign not provided criteria provided, single submitter not provided
Clinical Genetics, Academic Medical Center RCV000615327 SCV001923455 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001726238 SCV001967985 likely benign not provided no assertion criteria provided clinical testing

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