ClinVar Miner

Submissions for variant NM_177965.4(CFAP418):c.414G>A (p.Leu138=)

gnomAD frequency: 0.00001  dbSNP: rs150592488
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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 RCV002238768 SCV002508955 likely benign not provided 2023-08-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002481046 SCV002788162 uncertain significance Retinitis pigmentosa; Cone-rod dystrophy 16; Bardet-biedl syndrome 21 2022-04-21 criteria provided, single submitter clinical testing

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