Variants with conflicting interpretations "benign" from Eurofins NTD LLC (GA) and "likely pathogenic" from Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino

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: 9

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HGVS	dbSNP	gnomAD frequency
NM_001267550.2(TTN):c.72132T>C (p.Gly24044=)	rs56169243	0.00400
NM_001267550.2(TTN):c.73825G>C (p.Glu24609Gln)	rs55762754	0.00317
NM_001267550.2(TTN):c.103147G>C (p.Glu34383Gln)	rs148525155	0.00274
NM_001267550.2(TTN):c.26863A>G (p.Ile8955Val)	rs72648994	0.00274
NM_030962.4(SBF2):c.2323G>A (p.Gly775Ser)	rs141330687	0.00267
NM_001267550.2(TTN):c.1137A>G (p.Arg379=)	rs55972547	0.00129
NM_001267550.2(TTN):c.15178G>C (p.Val5060Leu)	rs72648929
NM_001267550.2(TTN):c.5993G>A (p.Arg1998His)	rs144135510
NM_004380.3(CREBBP):c.2728A>G (p.Thr910Ala)	rs143247685

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