ClinVar Miner

Submissions for variant NM_024921.4(POF1B):c.*1849G>A

gnomAD frequency: 0.08686  dbSNP: rs73513629
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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 RCV000402392 SCV000482865 benign Premature ovarian failure 2B 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000382782 SCV000484393 benign Non-syndromic X-linked intellectual disability 2016-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004713914 SCV005274828 benign not provided criteria provided, single submitter not provided

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