ClinVar Miner

Submissions for variant NM_002775.5(HTRA1):c.-57C>A

gnomAD frequency: 0.01387  dbSNP: rs554513888
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000313936 SCV000361208 likely benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000313936 SCV000483047 likely benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004706758 SCV005220807 likely benign not provided criteria provided, single submitter not provided

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