ClinVar Miner

Submissions for variant NM_017837.3(PIGV):c.-370G>A

gnomAD frequency: 0.05676  dbSNP: rs71636780
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000339893 SCV000483030 likely benign Hyperphosphatasia-intellectual disability syndrome 2016-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004711027 SCV005264208 likely benign not provided criteria provided, single submitter not provided

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