ClinVar Miner

Submissions for variant NM_001378615.1(CC2D2A):c.2182-9G>A

gnomAD frequency: 0.00009  dbSNP: rs376312792
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000896097 SCV001040172 likely benign not provided 2018-01-11 criteria provided, single submitter clinical testing
GeneDx RCV000896097 SCV002522051 uncertain significance not provided 2021-11-29 criteria provided, single submitter clinical testing In silico analysis supports a deleterious effect on splicing; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV005029526 SCV005662410 uncertain significance Meckel syndrome, type 6; Joubert syndrome 9; COACH syndrome 2; Retinitis pigmentosa 93 2024-04-05 criteria provided, single submitter clinical testing

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