ClinVar Miner

Submissions for variant NM_001044385.3(TMEM237):c.554-15G>A

gnomAD frequency: 0.00213  dbSNP: rs144051344
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000248503 SCV000306322 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001521035 SCV001730285 benign Joubert syndrome 14 2024-01-22 criteria provided, single submitter clinical testing

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