ClinVar Miner

Submissions for variant NM_002532.6(NUP88):c.585C>T (p.Asn195=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003131844 SCV003814216 uncertain significance Fetal akinesia deformation sequence 4 2021-02-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004696313 SCV005192566 uncertain significance not provided criteria provided, single submitter not provided

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