ClinVar Miner

Submissions for variant NM_000465.4(BARD1):c.684A>G (p.Glu228=) (rs780627045)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001088108 SCV000259533 likely benign Familial cancer of breast 2020-10-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV000213234 SCV000274242 uncertain significance Hereditary cancer-predisposing syndrome 2020-10-05 criteria provided, single submitter clinical testing The c.684A>G variant (also known as p.E228E), located in coding exon 4 of the BARD1 gene, results from an A to G substitution at nucleotide position 684. This nucleotide substitution does not change the glutamic acid at codon 228. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000506664 SCV000600203 uncertain significance not specified 2016-11-19 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000206652 SCV001153298 uncertain significance not provided 2017-03-01 criteria provided, single submitter clinical testing
Color Health, Inc RCV000213234 SCV001355045 likely benign Hereditary cancer-predisposing syndrome 2018-12-04 criteria provided, single submitter clinical testing

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