ClinVar Miner

Submissions for variant NM_001289808.2(CRYAB):c.525del (p.Lys175fs)

dbSNP: rs2137378244
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomics England Pilot Project, Genomics England RCV001542475 SCV001760263 likely pathogenic Cataract 16 multiple types no assertion criteria provided clinical testing

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