ClinVar Miner

Submissions for variant NM_002968.2(SALL1):c.3915C>T (p.Asn1305=) (rs140524372)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000331240 SCV000341402 benign not specified 2016-05-12 criteria provided, single submitter clinical testing
GeneDx RCV001718582 SCV000530809 benign not provided 2020-07-08 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 16892410, 11102974, 10819639)
Invitae RCV000872592 SCV001014428 benign Townes syndrome 2019-12-31 criteria provided, single submitter clinical testing

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