ClinVar Miner

Submissions for variant NM_020843.4(SCAPER):c.3707_3708del (p.Ser1236fs)

dbSNP: rs1303625185
Minimum review status: Collection method:
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New Leaf Center RCV000984529 SCV001132587 likely pathogenic Intellectual developmental disorder and retinitis pigmentosa; IDDRP 2019-04-30 no assertion criteria provided clinical testing

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