Variants with conflicting interpretations "uncertain significance" from Laboratory of Medical Genetics, National & Kapodistrian University of Athens and "benign" from any submitter

Minimum review status of the submission from Laboratory of Medical Genetics, National & Kapodistrian University of Athens:		Collection method of the submission from Laboratory of Medical Genetics, National & Kapodistrian University of Athens:
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Total variants with conflicting interpretations: 5

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HGVS	dbSNP	gnomAD frequency
NM_014363.6(SACS):c.13717A>C (p.Asn4573His)	rs34382952	0.00326
NM_001165963.4(SCN1A):c.1625G>A (p.Arg542Gln)	rs121918817	0.00154
NM_000368.5(TSC1):c.532G>A (p.Val178Ile)	rs118203395	0.00014
NM_000548.5(TSC2):c.2294C>T (p.Ala765Val)	rs886042145	0.00002
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile)	rs137853964

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