ClinVar Miner

Submissions for variant NM_000283.4(PDE6B):c.651G>A (p.Thr217=)

gnomAD frequency: 0.00041  dbSNP: rs200664252
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001442371 SCV001645320 likely benign not provided 2024-02-27 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003888147 SCV004705753 likely benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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