ClinVar Miner

Submissions for variant NM_001044385.3(TMEM237):c.396-14C>T

gnomAD frequency: 0.00210  dbSNP: rs74411816
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000245878 SCV000306321 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001521036 SCV001730286 benign Joubert syndrome 14 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV001785539 SCV002027885 likely benign not provided 2021-05-17 criteria provided, single submitter clinical testing

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