Variants with conflicting interpretations "pathogenic" from Molecular Genetics laboratory, Necker Hospital and "uncertain significance" from any submitter

Minimum review status of the submission from Molecular Genetics laboratory, Necker Hospital:		Collection method of the submission from Molecular Genetics laboratory, Necker Hospital:
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Show significances as they were submitted (without aggregation into standard terms)
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Total variants with conflicting interpretations: 8

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HGVS	dbSNP	gnomAD frequency
NM_000531.6(OTC):c.1009G>T (p.Val337Phe)	rs72558487
NM_000531.6(OTC):c.608C>T (p.Ser203Phe)	rs72558410
NM_002804.5(PSMC3):c.782T>C (p.Ile261Thr)
NM_003042.4(SLC6A1):c.1531G>A (p.Val511Met)	rs1064794981
NM_006306.4(SMC1A):c.793_795del (p.Glu265del)	rs1602413408
NM_006940.6(SOX5):c.1711C>T (p.Arg571Trp)	rs1565669640
NM_013328.4(PYCR2):c.596G>A (p.Arg199Gln)
NM_020771.4(HACE1):c.2487TCT[1] (p.Leu832del)	rs869025283

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