Variants with conflicting interpretations "likely pathogenic" from Eurofins Ntd Llc (ga) and "pathogenic" from Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

Minimum review status of the submission from Eurofins Ntd Llc (ga):		Collection method of the submission from Eurofins Ntd Llc (ga):
Minimum review status of the other submission:		Collection method of the other submission:
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants with conflicting interpretations: 14

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HGVS	dbSNP	gnomAD frequency
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)	rs61755320	0.00364
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser)	rs141659620	0.00102
NM_004820.5(CYP7B1):c.1456C>T (p.Arg486Cys)	rs116171274	0.00051
NM_206933.4(USH2A):c.10342G>A (p.Glu3448Lys)	rs368049814	0.00008
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln)	rs200411226	0.00004
NM_000523.4(HOXD13):c.820C>T (p.Arg274Ter)	rs200750564	0.00001
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp)	rs61751444
NM_001378452.1(ITPR1):c.805C>T (p.Arg269Trp)	rs886039392
NM_003136.4(SRP54):c.343ACA[2] (p.Thr117del)	rs1555354198
NM_015909.4(NBAS):c.2950del (p.Ile984fs)	rs776797592
NM_017547.4(FOXRED1):c.612_615dup (p.Ala206fs)	rs398124308
NM_017946.4(FKBP14):c.362dup (p.Glu122fs)	rs542489955
NM_033100.4(CDHR1):c.2522_2528del (p.Ile841fs)	rs794727197
NM_172107.4(KCNQ2):c.793G>A (p.Ala265Thr)	rs794727740

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