ClinVar Miner

Submissions for variant NM_001360.2(DHCR7):c.376G>A (p.Val126Ile) (rs143587828)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000178841 SCV000231006 uncertain significance not provided 2018-04-06 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000297594 SCV000373923 uncertain significance Smith-Lemli-Opitz syndrome 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717845 SCV000848705 uncertain significance History of neurodevelopmental disorder 2017-01-09 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Mendelics RCV000178841 SCV001135033 uncertain significance not provided 2019-05-28 criteria provided, single submitter clinical testing

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