ClinVar Miner

Submissions for variant NM_138959.3(VANGL1):c.1045G>A (p.Glu349Lys)

gnomAD frequency: 0.00003  dbSNP: rs778860160
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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 RCV002469103 SCV000347452 uncertain significance Caudal regression sequence 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000297428 SCV000347453 uncertain significance Neural tube defect 2016-06-14 criteria provided, single submitter clinical testing

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