ClinVar Miner

Submissions for variant NM_000554.6(CRX):c.724G>A (p.Val242Met)

gnomAD frequency: 0.00521  dbSNP: rs61748459
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000597336 SCV000709334 benign not specified 2017-06-15 criteria provided, single submitter clinical testing
Invitae RCV001081597 SCV001091440 benign Leber congenital amaurosis 7; Cone-rod dystrophy 2 2024-01-25 criteria provided, single submitter clinical testing
Mendelics RCV000990238 SCV001141115 likely benign Leber congenital amaurosis 1 2019-05-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505020 SCV002799422 likely benign Retinitis pigmentosa; Leber congenital amaurosis 7; Cone-rod dystrophy 2 2022-05-17 criteria provided, single submitter clinical testing
Retina International RCV000086018 SCV000118161 not provided not provided no assertion provided not provided

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