ClinVar Miner

Submissions for variant NM_020134.4(DPYSL5):c.121G>A (p.Glu41Lys)

dbSNP: rs866373727
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV001542271 SCV001760949 pathogenic Ritscher-Schinzel syndrome 4 2021-07-22 no assertion criteria provided literature only
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579689 SCV001808157 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001579689 SCV001963775 uncertain significance not provided no assertion criteria provided clinical testing

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