ClinVar Miner

Submissions for variant NM_001278293.3(ARL6):c.432T>A (p.Ser144=)

gnomAD frequency: 0.00001  dbSNP: rs1324293417
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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 RCV001440989 SCV001643906 likely benign Bardet-Biedl syndrome 3; Retinitis pigmentosa 55 2023-10-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501551 SCV002805834 likely benign Bardet-Biedl syndrome 1; Bardet-Biedl syndrome 3; Retinitis pigmentosa; Retinitis pigmentosa 55 2021-12-27 criteria provided, single submitter clinical testing

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