ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.4937-4dup

dbSNP: rs35268159
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000273179 SCV000465954 benign Lissencephaly, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001510682 SCV001717778 benign Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2024-02-01 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001700008 SCV001918871 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001700008 SCV001966574 benign not specified no assertion criteria provided clinical testing

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