ClinVar Miner

Submissions for variant NM_006158.4(NEFL):c.64C>T (p.Pro22Ser) (rs28928910)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000415401 SCV000493018 likely pathogenic Pes cavus; Distal lower limb muscle weakness; Peripheral neuropathy 2014-06-03 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000414916 SCV000493036 pathogenic Decreased nerve conduction velocity; Distal muscle weakness; Hand muscle atrophy; Peripheral demyelination; Peripheral neuropathy 2014-06-11 criteria provided, single submitter clinical testing
Epithelial Biology; Institute of Medical Biology, Singapore RCV000057144 SCV000088257 not provided not provided no assertion provided not provided
GeneReviews RCV000194357 SCV000243953 pathogenic Charcot-Marie-Tooth disease, type 1C 2014-12-18 no assertion criteria provided literature only
OMIM RCV000015073 SCV000035329 pathogenic Charcot-Marie-Tooth disease type 2E 2006-03-15 no assertion criteria provided literature only

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