ClinVar Miner

Submissions for variant NM_001297.5(CNGB1):c.1401G>A (p.Val467=)

gnomAD frequency: 0.00015  dbSNP: rs762031587
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001391784 SCV001593415 likely benign not provided 2024-04-22 criteria provided, single submitter clinical testing

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