ClinVar Miner

Submissions for variant NM_021926.4(ALX4):c.976G>A (p.Asp326Asn)

gnomAD frequency: 0.00022  dbSNP: rs186244229
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000415474 SCV000328356 uncertain significance Frontonasal dysplasia with alopecia and genital anomaly 2016-09-03 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000513863 SCV000610637 uncertain significance not provided 2017-07-17 criteria provided, single submitter clinical testing

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