List of variants reported as uncertain significance for RASopathy by GeneDx

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_002834.5(PTPN11):c.487G>A (p.Gly163Ser)	rs730880992	0.00002
NM_004333.6(BRAF):c.83GCGCCG[1] (p.28GA[1])	rs397507458
NM_030662.4(MAP2K2):c.22del (p.Val8fs)	rs730880519
NM_030662.4(MAP2K2):c.71del (p.Pro24fs)	rs730880525

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