ClinVar Miner

Submissions for variant NM_001278293.3(ARL6):c.192A>G (p.Ser64=)

gnomAD frequency: 0.00020  dbSNP: rs140114162
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000868672 SCV001010032 benign Bardet-Biedl syndrome 3; Retinitis pigmentosa 55 2024-01-28 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003889998 SCV004705580 likely benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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