ClinVar Miner

Submissions for variant NM_002532.6(NUP88):c.2172T>C (p.His724=)

gnomAD frequency: 0.44165  dbSNP: rs11209
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001788923 SCV002029967 benign Fetal akinesia deformation sequence 4 2021-09-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004710357 SCV005254825 benign not provided criteria provided, single submitter not provided

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