ClinVar Miner

Submissions for variant NM_024747.6(HPS6):c.2250G>A (p.Ser750=)

gnomAD frequency: 0.00041  dbSNP: rs139161525
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000253421 SCV000314395 benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000726433 SCV000344600 uncertain significance not provided 2016-09-20 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000253421 SCV000595184 likely benign not specified 2015-10-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000253421 SCV000711329 likely benign not specified 2017-09-25 criteria provided, single submitter clinical testing p.Ser750Ser in exon 1 of HPS6: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 0.1% 36/34390 of La tino chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broad institute.org; dbSNP rs139161525)
Invitae RCV000726433 SCV001027076 likely benign not provided 2024-01-26 criteria provided, single submitter clinical testing
GeneDx RCV000726433 SCV001945973 likely benign not provided 2020-06-18 criteria provided, single submitter clinical testing

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