ClinVar Miner

Submissions for variant NM_005591.4(MRE11):c.193A>G (p.Asn65Asp)

dbSNP: rs1947135355
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GenomeConnect, ClinGen RCV001249418 SCV001423419 not provided Ataxia-telangiectasia-like disorder 1 no assertion provided phenotyping only Variant interpretted as Uncertain significance and reported on 02-04-2019 by Lab or GTR ID Saskatchewan Health Authority. 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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