ClinVar Miner

Submissions for variant NM_004260.3(RECQL4):c.2817G>A (p.Ala939=) (rs202045203)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000845071 SCV000288244 benign not provided 2019-03-06 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000845071 SCV000986914 not provided not provided no assertion provided phenotyping only Variant interpretted as Uncertain significance and reported on 09/20/2018 by GTR ID 239772. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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