ClinVar Miner

Submissions for variant NM_017541.4(CRYGS):c.23T>A (p.Ile8Asn)

dbSNP: rs2108743641
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli RCV001420307 SCV001622727 likely pathogenic See cases 2021-04-26 criteria provided, single submitter clinical testing PP3_strong;PM1_moderate;PM2_supporting;BP1_supporting

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