ClinVar Miner

Submissions for variant NM_020843.4(SCAPER):c.2653del (p.Glu885fs)

dbSNP: rs1597752941
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV001029901 SCV001192696 likely pathogenic Intellectual developmental disorder and retinitis pigmentosa; IDDRP 2019-04-02 no assertion criteria provided clinical testing

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