ClinVar Miner

Submissions for variant NM_020843.4(SCAPER):c.2166-3C>G

dbSNP: rs1598279469
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New Leaf Center RCV000984531 SCV001132589 likely pathogenic Intellectual developmental disorder and retinitis pigmentosa; IDDRP 2019-04-30 no assertion criteria provided clinical testing
GenomeConnect, ClinGen RCV000984531 SCV001423244 not provided Intellectual developmental disorder and retinitis pigmentosa; IDDRP no assertion provided phenotyping only Variant interpretted as Likely pathogenic and reported on 01-24-2019 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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