ClinVar Miner

Submissions for variant NM_015100.4(POGZ):c.945T>C (p.Asn315=)

gnomAD frequency: 0.00037  dbSNP: rs144073313
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000935364 SCV001081110 benign not provided 2018-07-06 criteria provided, single submitter clinical testing
GeneDx RCV000935364 SCV001915424 benign not provided 2020-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003338870 SCV004049832 benign Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 2023-04-11 criteria provided, single submitter clinical testing

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