ClinVar Miner

Submissions for variant NM_001089.3(ABCA3):c.954C>T (p.Ile318=) (rs35161127)

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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 RCV000734165 SCV000862287 likely benign not specified 2018-07-05 criteria provided, single submitter clinical testing
Invitae RCV000894113 SCV001038080 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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