ClinVar Miner

Submissions for variant NM_002968.2(SALL1):c.3180C>A (p.Leu1060=) (rs142054182)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000597625 SCV000703550 likely benign not specified 2016-11-23 criteria provided, single submitter clinical testing
Invitae RCV000951923 SCV001098375 benign not provided 2017-07-21 criteria provided, single submitter clinical testing

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