ClinVar Miner

Submissions for variant NM_000283.4(PDE6B):c.267C>T (p.Ala89=)

gnomAD frequency: 0.00046  dbSNP: rs147181781
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000153662 SCV000203219 uncertain significance not provided 2014-04-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000153662 SCV001646493 likely benign not provided 2024-10-11 criteria provided, single submitter clinical testing

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