ClinVar Miner

Submissions for variant NM_006297.3(XRCC1):c.580C>T (p.Arg194Trp)

gnomAD frequency: 0.06906  dbSNP: rs1799782
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001637014 SCV001850721 benign not provided 2020-11-02 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 17630853, 26434847, 25227852, 25340946, 24497981, 25169084, 24039945, 23990873, 23320983, 22639094, 29484706, 19124519, 16324877, 20385586, 19465687, 20431719, 22983827, 21499756, 20553853, 21987112, 12893086, 20218899, 20331623, 20863780, 20332227, 20052722, 19481337, 15113441)
Breakthrough Genomics, Breakthrough Genomics RCV001637014 SCV005308089 benign not provided criteria provided, single submitter not provided
Database of Curated Mutations (DoCM) RCV000444869 SCV000505735 not provided Non-small cell lung carcinoma 2016-03-10 no assertion provided literature only

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