ClinVar Miner

Submissions for variant NM_002241.5(KCNJ10):c.500C>T (p.Ala167Val) (rs137853070)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GenomeConnect, ClinGen RCV000007892 SCV000986715 not provided SeSAME syndrome no assertion provided phenotyping only Variant interpretted as Likely pathogenic and reported on 06/02/2017 by 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.
OMIM RCV000007892 SCV000028097 pathogenic SeSAME syndrome 2010-11-12 no assertion criteria provided literature only

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