ClinVar Miner

Submissions for variant NM_000797.4(DRD4):c.235_247del (p.Ala79fs)

dbSNP: rs587776842
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000018254 SCV000038533 pathogenic Autonomic nervous system dysfunction 1994-12-01 no assertion criteria provided literature only
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573700 SCV001799954 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727514 SCV001968623 benign not specified no assertion criteria provided clinical testing

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